Gelal Fazıl Mustafa, Kalaycı Tuğçe Özlem, Çelebisoy Mehmet, Karakaş Levent, Akkurt Hülya Erdoğan, Koç Feray
Department of Radiology, İzmir Katip Çelebi University, Atatürk Training and Research Hospital, İzmir, Turkey.
Department of Neurology, İzmir Katip Çelebi University, Atatürk Training and Research Hospital, İzmir, Turkey.
Ann Indian Acad Neurol. 2016 Apr-Jun;19(2):255-7. doi: 10.4103/0972-2327.160054.
Cerebellar agenesis (CA) is an extremely rare entity. We present two adult patients with CA. The 61-year-old man had ataxia, dysarthria, abnormalities in cerebellar tests, severe cognitive impairment, and moderate mental retardation. The 26-year-old woman had dysmetria, dysdiadochokinesia, and dysarthria as well as mild cognitive impairment and mild mental retardation. Magnetic resonance imaging (MRI) showed complete absence of the cerebellum with small residual vermis. Brainstem was hypoplastic and structures above tentorium were normal. Supratentorial white matter bundles were unaffected in diffusion tensor tractography. Only few adult patients with CA have so far been published. These cases show that patients with CA present with a variety of developmental, clinical, and mental abnormalities; and emphasize the role of the cerebellum in normal motor, language, and mental development.
小脑发育不全（CA）是一种极其罕见的病症。我们报告了两名患有CA的成年患者。这位61岁的男性有共济失调、构音障碍、小脑检查异常、严重认知障碍和中度智力发育迟缓。这位26岁的女性有辨距不良、轮替运动障碍和构音障碍，以及轻度认知障碍和轻度智力发育迟缓。磁共振成像（MRI）显示小脑完全缺失，仅残留少量蚓部。脑干发育不全，幕上结构正常。在扩散张量成像中，幕上白质束未受影响。迄今为止，仅有少数成年CA患者的病例被发表。这些病例表明，CA患者存在多种发育、临床和精神方面的异常；并强调了小脑在正常运动、语言和精神发育中的作用。
